Inhibitor of Nuclear Factor Kappa-B Kinase, Subunit Beta

Alternative Names

  • IKBKB
  • Inhibitor of Kappa Light Chain Gene Enhancer in B Cells, Kinase of, Beta
  • Nuclear Factor of Kappa Light Chain Gene Enhancer in B Cells Inhibitor, Kinase of, Beta
  • IKK-Beta
  • IKKB
  • I-Kappa-B Kinase
  • IKK2

Associated Diseases

Immunodeficiency 15B
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OMIM Number

603258

NCBI Gene ID

3551

Uniprot ID

O14920

Length

61,352 bases

No. of Exons

24

No. of isoforms

4

Protein Name

Inhibitor of nuclear factor kappa-B kinase subunit beta

Molecular Mass

86564 Da

Amino Acid Count

756

Genomic Location

chr8:42,271,302-42,332,653

Gene Map Locus
8p11.21

Description

The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001556.3:c.849G>AUnited Arab EmiratesNC_000008.11:g.42316258G>ALikely PathogenicImmunodeficiency 15BNG_041793.1:g.49957G>A; NM_001556.3:c.849G>A; NP_001547.1:p.Trp283Ter
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